HPO Phenotype Lookup
lookup_phenotypeRetrieve a phenotype term from the Human Phenotype Ontology with its definition, synonyms, parent terms, and associated disease annotations from OMIM and Orphanet.
Instructions
Retrieve an HPO phenotype term with associated disease annotations.
Returns:
Phenotype label, definition, synonyms
Diseases annotated with this phenotype (from HPO + OMIM + Orphanet)
Parent phenotype terms
Example: lookup_phenotype(hpo_id='HP:0001250')
returns the Seizure phenotype with ~400 associated diseases.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| params | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |